VWF c.3295_3296delinsCC ;(p.C1099P)

Variant ID: 12-6132880-CA-GG

NM_000552.3(VWF):c.3295_3296delinsCC;(p.C1099P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: VWF: C1099P
PubMed Link: 22431572
Variant Present in the following documents:
  • Main text
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